Institut de Myologie, Paris F-75013, France. 5 Centre de référence de Pathologie Neuromusculaire Paris-Est, Helsinki, and the Folkhälsan Institute of Genetics Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Université Versailles Saint-Quentin en Yvelines (UVSQ) 10 Hospital Nacional de Pediatría J.P ,
Recent advances in nemaline myopathy, Current Opinion in Neurology, vol.26, issue.5, pp.519-526, 2013. ,
DOI : 10.1097/WCO.0b013e328364d681
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy, Nat Genet, vol.23, issue.2, pp.208-212, 1999. ,
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy, Proceedings of the National Academy of Sciences, vol.96, issue.5, pp.2305-2310, 1999. ,
DOI : 10.1073/pnas.96.5.2305
Mutations in the ??-tropomyosin (TPM2) gene ??? a rare cause of nemaline myopathy, Neuromuscular Disorders, vol.12, issue.2, pp.151-158, 2002. ,
DOI : 10.1016/S0960-8966(01)00252-8
A mutation in the ?? tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy, Nature Genetics, vol.328, issue.1, pp.75-79, 1995. ,
DOI : 10.1038/ng0195-75
A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1, The American Journal of Human Genetics, vol.67, issue.4, pp.814-821, 2000. ,
DOI : 10.1086/303089
Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin???Binding Protein, Cofilin-2, The American Journal of Human Genetics, vol.80, issue.1, pp.162-167, 2006. ,
DOI : 10.1086/510402
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores Erratum in, Am J Hum Genet Am J Hum Genet, vol.8788, issue.61, pp.842-847122, 2010. ,
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy, The American Journal of Human Genetics, vol.93, issue.1, pp.6-18, 2013. ,
DOI : 10.1016/j.ajhg.2013.05.004
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy, The American Journal of Human Genetics, vol.93, issue.6, pp.1108-1117, 2013. ,
DOI : 10.1016/j.ajhg.2013.10.020
Nemaline Myopathies, Seminars in Pediatric Neurology, vol.18, issue.4, pp.230-238, 2011. ,
DOI : 10.1016/j.spen.2011.10.004
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts, European Journal of Human Genetics, vol.12, issue.9, pp.744-751, 2004. ,
DOI : 10.1038/sj.ejhg.5201242
Nebulin???A Giant Chameleon, Adv Exp Med Biol, vol.642, pp.28-39, 2008. ,
DOI : 10.1007/978-0-387-84847-1_3
An Integrated Diagnosis Strategy for Congenital Myopathies, PLoS ONE, vol.125, issue.6, 2013. ,
DOI : 10.1371/journal.pone.0067527.s007
Targeted array comparative genomic hybridization ??? A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes, Neuromuscular Disorders, vol.23, issue.1, pp.56-65, 2012. ,
DOI : 10.1016/j.nmd.2012.07.007
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy, Human Mutation, vol.271, issue.9, pp.946-956, 2006. ,
DOI : 10.1002/humu.20370
Congenital myopathies, Handb Clin Neurol Review, vol.113, pp.1321-1336, 2013. ,
DOI : 10.1016/B978-0-444-59565-2.00004-6
URL : https://hal.archives-ouvertes.fr/inserm-00904638
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy, J Child Neurol, vol.18, issue.3, pp.235-240, 2003. ,
Study of a new observation of ?Nemaline Myopathy???, Acta Neuropathologica, vol.13, issue.3, pp.250-266, 1969. ,
DOI : 10.1007/BF00690645
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy., Journal of Medical Genetics, vol.34, issue.9, pp.705-713, 1997. ,
DOI : 10.1136/jmg.34.9.705
Congenital myopathies, Seminars in Pediatric Neurology, vol.3, issue.2, pp.152-161, 1996. ,
DOI : 10.1016/S1071-9091(96)80043-X
Clinical course correlates poorly with muscle pathology in nemaline myopathy, Neurology, vol.60, issue.4, pp.665-673, 2003. ,
DOI : 10.1212/01.WNL.0000046585.81304.BC
Congenital myopathies Skeletal muscle pathology, pp.161-203, 1982. ,
Pathology of congenital nemaline myopathy. A follow-up study, J Neurol Sci, vol.83, pp.2-3243, 1988. ,
The exon 55 deletion in the nebulin gene ??? One single founder mutation with world-wide occurrence, Neuromuscular Disorders, vol.19, issue.3, pp.179-181, 2009. ,
DOI : 10.1016/j.nmd.2008.12.001
Next generation sequencing for molecular diagnosis of neuromuscular diseases, Acta Neuropathologica, vol.11, issue.2, pp.273-283, 2012. ,
DOI : 10.1007/s00401-012-0982-8
Romero Norma Beatriz Extensive morphological and immunohistochemical characterization in myotubular myopathy, Brain and Behavior, vol.7, pp.476-486, 2013. ,
Muscle biopsy A practical approach 4th edition) Histochemical, quantitative and ultrastructural maturation of human fetal muscle, J Neurol Sci, vol.30, issue.312, pp.245-259, 1977. ,
Main steps of skeletal muscle development in the human, Pediatric Neurology Part III. Handbook of Clinical Neurology, vol.113, pp.1299-1301, 2013. ,
DOI : 10.1016/B978-0-444-59565-2.00002-2
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency, Human Molecular Genetics, vol.18, issue.13, pp.2359-69, 2009. ,
DOI : 10.1093/hmg/ddp168
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2), Journal of Structural Biology, vol.170, issue.2, pp.334-343, 2010. ,
DOI : 10.1016/j.jsb.2009.11.013
Effect of Inorganic Phosphate on the Force and Number of Myosin Cross-Bridges During the Isometric Contraction of Permeabilized Muscle Fibers from Rabbit Psoas, Biophysical Journal, vol.95, issue.12, pp.5798-5808, 2008. ,
DOI : 10.1529/biophysj.108.130435
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders, Acta Neuropathologica, vol.29, issue.3, pp.173-185, 2013. ,
DOI : 10.1007/s00401-012-1072-7
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy, Skeletal Muscle, vol.1, issue.1, pp.23-33, 2011. ,
DOI : 10.1073/pnas.83.10.3542
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations, Journal of Medical Genetics, vol.185, issue.6, pp.383-392, 2013. ,
DOI : 10.1136/jmedgenet-2012-101470
Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs, Journal of Molecular Biology, vol.282, issue.1, pp.111-123, 1998. ,
DOI : 10.1006/jmbi.1998.1999
New Insights into the Structural Roles of Nebulin in Skeletal Muscle, Journal of Biomedicine and Biotechnology, vol.109, issue.11, pp.968139-968149, 2010. ,
DOI : 10.1091/mbc.E07-07-0690
The role of immunocytochemistry in congenital myopathies, Neuromuscular Disorders, vol.8, issue.6, pp.394-400, 1998. ,
DOI : 10.1016/S0960-8966(98)00053-4
Mutations in the nebulin gene can cause severe congenital nemaline myopathy, Neuromuscular Disorders, vol.12, issue.7-8, pp.7-8674, 2002. ,
DOI : 10.1016/S0960-8966(02)00065-2
Centronuclear Myopathies, Seminars in Pediatric Neurology, vol.18, issue.4, pp.250-256, 2011. ,
DOI : 10.1016/j.spen.2011.10.006
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype, Acta Neuropathologica Communications, vol.18, issue.4, p.44, 2014. ,
DOI : 10.1016/j.spen.2011.10.006
URL : https://hal.archives-ouvertes.fr/inserm-00987739